Table 1.
Molecular Genetic Results for EYS-retinitis pigmentosa (RP) Patients.
| Patient | Allele 1 | Allele 2 | ||||
|---|---|---|---|---|---|---|
| Nucleotide Change | Amino Acid Change or Predicted Effect | First Reports of Mutation | Nucleotide Change | Amino Acid Change or Predicted Effect | First Reports of Mutation | |
| P1 | c.1155T>A | p.(Cys385Ter) | This Study | c.8648_8655delCATGCAGA | p.(Thr2883LysfsTer4) | [26] |
| P2 | c.2137+1G>A | p.? | This Study | c.2137+1G>A | p.? | This Study |
| P3 | c.490C>T | p.(Arg164Ter) | [27] | c.2260-1437_2847-6134del | p.(Ser754IlefsTer4) | This Study |
| P4 | c.4829_4832delCATT | p.(Ser1610PhefsTer7) | This Study | c.5928-2A>G | p.? | [28] |
| P5 a | c.7919G>A | p.(Trp2640Ter) | [1] | c.8411_8412insTT | p.(Thr2805Ter) | This Study |
| P6 | c.32dupT | p.(Met12AspfsTer14) | [29] | c.32dupT | p.(Met12AspfsTer14) | [29] |
| P7 | c.9286_9295delGTAAATATCG | p.(Val3096LysfsTer28) | [30] | c.2259+10539_2993-12013del | p.(Ser754AlafsTer6) | [1] b |
| P8 | c.490C>T | p.(Arg164Ter) | [27] | c.2826_2827delAT | p.(Val944GlyfsTer9) | [31] |
| P9 | c.2889T>A | p.(Cys963Ter) | This Study | c.2889T>A | p.(Cys963Ter) | This Study |
| P10 | c.(1766+1_17671)_(2023+1_2024-1)del | p.(Cys590TyrfsTer4) | [1] b | c.(1766+1_17671)_(2023+1_2024-1)del | p.(Cys590TyrfsTer4) | [1] b |
| P11 a | c.2259+1G>A | p.? | [8] | c.8338_8342delins c | p.(Gly2780_Ser2781 delinsTyrLysLeuTer) | This Study |
| P12 | c.6528C>A | p.(Tyr2176Ter) | This Study | c.6528C>A | p.(Tyr2176Ter) | This Study |
| P13 | c.8408dupA | p.(Asn2803LysfsTer9) | [29] | c.5834delA | p.(Lys1945SerfsTer42) | [2] |
| P14 | c.6416G>A | p.(Cys2139Tyr) | [32] | c.6416G>A | p.(Cys2139Tyr) | [32] |
| P15 | c.9286_9295delGTAAATATCG | p.(Val3096LysfsTer28) | [30] | c.9286_9295delGTAAATATCG | p.(Val3096LysfsTer28) | [30] |
a segregation analysis was performed, and mutations were confirmed to be on separate alleles; b similar to mutation previously reported by this reference; c inserted sequence: TATAAACTATAACTATAAACTATAAACTATAAACTATAAACTATAAACTATAAACTATA.